The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Christina B. Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J. Corydon; Brage S. Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen